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Erratum to: Analysis, identification and visualization of subgroups in genomics

Briefings in bioinformatics 2021年第6期22卷 bbab280页

作者： Gunnar Völkel Simon Laban Axel Fürstberger Silke D Kühlwein Nensi Ikonomi Thomas K Hoffmann Cornelia Brunner Donna S Neuberg Verena Gaidzik Hartmut Döhner Johann M Kraus Hans A Kestler Institute of Medical Systems Biology (MSB) Ulm University Ulm Germany. Department of Otorhinolaryngology Head and Neck Surgery Ulm University Medical Center Germany. MSB and deputy of Core Unit Bioinformatics Ulm University Ulm Germany. International Graduate School of Molecular Medicine Ulm University Germany. Department of Biostatistics Dana-Farber Cancer Institute Boston Massachusetts USA. Department of Internal Medicine III Ulm University Medical Center Germany. MSB Ulm University Germany. Institute of Medical Systems Biology and head of Core Unit Bioinformatics Ulm University Ulm Germany.

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Real-Life Study on Gilteritinib Related Infections (GilteRInf): An Italian Seifem Study

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Blood 2024年 144卷 5970-5970页

作者： Elisa Buzzatti Francesco Marchesi Federica Lessi Sara Pezone Cristina Papayannidis Patrizia Zappasodi Fabio Forghieri Luana Fianchi Martina Quattrone Mariachiara Abbenante Anna Lina Piccioni Davide Facchinelli Michelina Dargenio Maria Giovanna Cefalo Daniele Armiento Irene Terrenato Adriano Venditti Alessandro Busca Livio Pagano Maria Ilaria Del Principe Hematology Department of Biomedicine and Prevention University of Rome Tor Vergata Rome Italy Hematology and Stem Cell Transplant Unit IRCCS - Regina Elena National Cancer Institute Istituti Fisioterapici Ospitalieri (I.F.O.) Rome Italy Hematology Unit Department of Medicine University of Padova Padova Italy Department of Medicine Hematology and Clinical Immunology Unit University of Padova Padova Italy IRCCS Azienda Ospedaliero-Universitaria di Bologna Istituto di Ematologia “Seràgnoli” Bologna Italy UOC Ematologia Fondazione IRCCS Policlinico San Matteo Pavia Italy Section of Hematology Department of Medical and Surgical Sciences University of Modena and Reggio Emilia Azienda ospedaliero-universitaria di Modena Modena Italy UOC Ematologia geriatrica ed emopatie rare Dipartimento di scienze di laboratorio ed ematologiche Fondazione Policlinico Universitario A. Gemelli IRCCS Rome Italy Department of Hematology and Stem Cell Transplantation Unit IRCCS “Casa Sollievo della Sofferenza” Hospital San Giovanni Rotondo Italy UOC Ematologia Dipartimento Internistico Azienda Ospedaliera S. Giovanni Addolorata Rome Italy Hematology Unit Ospedale San Bortolo Vicenza Italy Hematology and Stem Cell Transplantation Unit Vito Fazzi Hospital Lecce Italy Ematologia Ospedale S. Eugenio Dipartimento di Biomedicina e Prevenzione Rome Italy Unit of Hematology Stem Cell Transplantation University Campus Bio-Medico Rome Italy Clinical Trial Center and Biostatistics and Bioinformatics IRCCS Regina Elena National Cancer Institute Rome Italy Stem Cell Transplant Center AOU Citta' Della Salute E Della Scienza Turin Italy

Background. Refractory/relapsed (R/R) acute myeloid leukemia (AML) patients (pts) have a poor prognosis with standard chemotherapy, even worsened by the occurrence of infections due to persistent neutropenia. In patients with R/R FLT3 -mutated AML, ADMIRAL trial demonstrated Gilteritinib's superiority over chemotherapy in terms of overall survival (OS), with a good safety profile. Given the recent approval, real-life experiences in the management and outcome of infectious complications are lacking, especially regarding invasive fungal diseases (IFD), since azoles are known for their interactions with Gilteritinib. In light of this, we conducted an ambispective real-life study on 13 Italian centers to assess the infectious risk in patients receiving Gilteritinib compared to R/R patients treated with chemotherapy. Methods. Infectious events (IE) diagnosed between April 2020 and June 2024 were recorded from the SEIFEM (Sorveglianza Epidemiologica Infezioni nelle Emopatie) group. Descriptive statistics were computed. Univariate logistic regression models were applied to test the risk of infection, log-rank test was applied to compare subgroups for OS analysis. Results. So far, we enrolled 107 pts with FLT3 mutated AML, 93 treated with Gilteritinib, 14 with intensive chemotherapy according to medical decision. Median age was 60.1 (range 25-93), 50 pts (47%) were male, 57 (53%) were female. Fifty-six patients (52%) had 0/1 comorbidity, while 39 (36%) had more than one. Thirty-two percent was submitted to a previous allogeneic transplantation. In Gilteritinib group, the number of pts with no IE was significantly higher than in the control arm (p=0.031), but no statistical difference was found regarding the grades of IE according to common toxicity criteria of adverse event (CTCAE) version 5, the number of pts with IFD and fever of undetermined origin (FUO). A trend of significance was observed regarding the number of pts with bacterial IE (p=0.057). Considering only the Gi

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A comprehensive genetic variant reference for the Chinese population

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Science Bulletin 2024年第24期69卷 3820-3825页

作者： Tao Jiang Hongzhe Guo Yadong Liu Gaoyang Li Zhe Cui Xinran Cui Yue Liu Yang Li Anqi Zhang Shuqi Cao Tianyi Zhao Liran Juan Weize Kong Ming Chen Dianming Liu Hongri Liu Yixiao Zhang Kelin Xu Yongjun Wang Meian He Jiancheng Guo Ming Lu Jun Chen Xing Zhao Genming Zhao Shaonong Dang Chao Chen Xiaojian Wu Qiyuan Qin Yixue Li Hongbing Shen Li Jin Bo Liu Xingdong Chen Yuhong Zhao Yadong Wang Faculty of Computing Harbin Institute of TechnologyHarbin 150001China Zhengzhou Research Institute Harbin Institute of TechnologyZhengzhou 450000China Harbin Nebula Bioinformatics Technology Company Harbin 150001China School of Medicine and Health Harbin Institute of TechnologyHarbin 150001China Department of Urology Surgery Key Laboratory of Precision Medical Research on Major Chronic DiseaseLiaoning ProvinceShengjing Hospital of China Medical UniversityShenyang 110004China Fudan University Taizhou Institute of Health Sciences Taizhou 200438China Department of Biostatistics School of Public HealthFudan UniversityShanghai 200433China Department of Neurology Beijing Tiantan HospitalCapital Medical UniversityBeijing 100070China China National Clinical Research Center for Neurological Diseases Beijing 100070China Department of Occupational and Environmental Health and State Key Laboratory of Environmental Health for Incubating School of Public HealthTongji Medical CollegeHuazhong University of Science and TechnologyWuhan 430030China Henan Research Center for Genomic Sequencing and Translational Medicine Zhengzhou UniversityZhengzhou 450001China The Second Affiliated Hospital of Zhengzhou University Zhengzhou 450014China Clinical Epidemiology Unit Qilu Hospital of Shandong UniversityJinan 250012China Department of Epidemiology and Health Statistics School of Public HealthFujian Medical UniversityFuzhou 350001China West China School of Public Health and West China Fourth Hospital Sichuan UniversityChengdu 610041China School of Public Health Fudan UniversityShanghai 200433China School of Public Health Xi'an Jiaotong UniversityXi'an 710061China Center for Medical Genetics&Hunan Key Laboratory of Medical Genetics School of Life Sciencesand Department of PsychiatryThe Second Xiangya HospitalCentral South UniversityChangsha 410083China Department of Colorectal Surgery the Sixth Affiliated HospitalSun Yat-sen UniversityGuangzhou 510655China Guangdong Provincial Key Laboratory of

Delineating the natural variations in the Chinese population is a crucial initial step towards the establishment of precision *** comprehensive characterization will not only elucidate the population’s unique genetic... 详细信息

关键词： population. population comprehensive

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1124O Prediction of distant relapse in patients with invasive breast cancer from deep learning models applied to digital pathology slides

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Annals of Oncology 2021年 32卷 S921-S921页

作者： I.J. Garberis C. Saillard D. Drubay B. Schmauch V. Aubert A. Jaeger M. Sapateiro A. de Lavergne A. Kamoun P. Courtiol F. André M. Lacroix-Triki INSERM UMR 981 Institut Gustave Roussy - INSERM UMR 981 Villejuif France Data and Clinical Solutions Owkin France Paris France Bioinformatics and Biostatistics Gustave Roussy Villejuif France Biostat Owkin France Paris France Breast Cancer Unit Medical Oncology Department Gustave Roussy - Cancer Campus Villejuif France Biology and Pathology Department Gustave Roussy Villejuif France

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Correction: Deprescribing psychoactive drugs in older orthogeriatric patients: findings from the GIOG2.0 Italian survey

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BMC geriatrics 2025年第1期25卷 210页

作者： Andrea Cavalli Antonio De Vincentis Claudio Pedone Alice Laudisio Lucrezia Santoro Maria Cristina Ferrara Caterina Trevisan Elena Tassistro Maria Grazia Valsecchi Giuseppe Castoldi Chiara Mussi Giuseppe Sergi Andrea Ungar Stefano Volpato Rocco Papalia Raffaele Antonelli Incalzi Giuseppe Bellelli Research Unit of Geriatrics Department of Medicine and Surgery Università Campus Bio-Medico di Roma Via Alvaro del Portillo 21 Roma 00128 Italy. Research Unit of Internal Medicine Department of Medicine and Surgery Università Campus Bio-Medico di Roma Via Alvaro del Portillo 21 Roma 00128 Italy. Fondazione Policlinico Universitario Campus Bio-Medico Via Alvaro del Portillo 200 Rome 00128 Italy. Training Programme in Internal Medicine Department of Medicine and Surgery Università Campus Bio-Medico di Roma Via Alvaro del Portillo 21 Roma 00128 Italy. School of Medicine and Surgery University of Milano-Bicocca Milan Italy. Department of Medical Science University of Ferrara Ferrara Italy. Biostatistics and Clinical Epidemiology Fondazione IRCCS San Gerardo dei Tintori Monza Italy. Bicocca Center of Bioinformatics Biostatistics and Bioimaging (B4 centre) School of Medicine and Surgery University of Milano-Bicocca Monza Italy. Orthopedics and Traumatology Unit - ASST della Brianza Carate Brianza Italy. Department of biomedical metabolic and neural sciences University of Modena and Reggio Emilia Modena Italy. Acute Geriatric Unit Department of Medicine University of Padova Padua Italy. Department of Geriatric Medicine University of Florence and AOU Careggi Florence Italy. Research Unit of Orthopaedic and Trauma Surgery Department of Medicine and Surgery Università Campus Bio-Medico di Roma Via Alvaro del Portillo Roma 00128 Italy. Research Unit of Internal Medicine Department of Medicine and Surgery Università Campus Bio-Medico di Roma Via Alvaro del Portillo 21 Roma 00128 Italy. r.antonelli@policlinicocampus.it. Fondazione Policlinico Universitario Campus Bio-Medico Via Alvaro del Portillo 200 Rome 00128 Italy. r.antonelli@policlinicocampus.it. School of Medicine and Surgery University of Milano-Bicocca Milan Italy. giuseppe.bellelli@unimib.it. Acute Geriatric Unit IRCCS Fondazione San Gerardo dei Tintori Monza Italy. giuseppe.bellelli@unimib.

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1770O Refining risk stratification in patients undergoing radiotherapy (RT) and long-term (lt) ADT for high-risk/locally advanced prostate cancer (HR/LA-PC): An individual patient data (IPD) analysis of randomized controlled trials (RCTs) from the ICECaP consortium

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Annals of Oncology 2023年 34卷 S954-S954页

作者： P. Ravi W. Xie M.E. Buyse S. Halabi P.W. Kantoff O. Sartor G. Attard N.W. Clarke A. D'Amico J. Dignam N.D. James K. Fizazi S. Gillessen W.R. Parulekar H. Sandler D. Spratt M.R. Sydes B. Tombal S. Williams C. Sweeney Genitourinary Oncology Dana Farber Cancer Institute Boston MA USA Biostatistics Dana Farber Cancer Institute Boston MA USA Biostatistics International Drug Development Institute Louvain-la-Neuve Ottignies Belgium Biostatistics and Bioinformatics Duke University Medical Center Durham NC USA Medical Oncology Convergent Therapeutics Inc. Cambridge MA USA Hematology/Oncology Department Mayo Clinic - Rochester Rochester LA USA Research Department of Oncology University College London London UK Department of Urology The Christie and Salford Royal NHS Foundation Trusts Manchester UK Radiation Oncology Dana Farber Cancer Institute Boston MA USA Biostatistics NRG Oncology Statistics and Data Management Center Philadelphia PA USA Prostate and Bladder Cancer Research Department ICR - Institute of Cancer Research London UK Cancer Medicine Department Institut Gustave Roussy Villejuif France Medical Oncology Department EOC - Ospedale Regionale Bellinzona e Valli - Istituto Oncologico della Svizzera Italiana (IOSI) Bellinzona Switzerland Cancer Research Institute Canadian Cancer Trials Group Kingston ON Canada Radiation Oncology Cedars Sinai Medical Center Los Angeles CA USA Radiation Oncology Case Western Reserve University/University Hospitals Cleveland OH USA MRC Clinical Trials Unit at UCL Medical Research Council Clinical Trials Unit London UK Urology Cliniques Universitaires St. Luc - Université Catholique de Louvain Brussels Belgium Radiation Oncology Peter MacCallum Cancer Center Melbourne VIC Australia South Australian Immunogenomics Cancer Institute The University of Adelaide Adelaide SA Australia

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141P Preliminary results of a comprehensive genome profiling in patients treated with Cyclin-dependent Kinase 4/6 inhibitors (CDK4/6i) plus endocrine therapy (ET) as first-line treatment for advanced breast cancer (ABC)

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ESMO Open 2025年 10卷 104694-104694页

作者： Carbognin, L. Paris, I. Rossi, A. Minucci, A. Giacò, L. Piermattei, A. de bonis, M. Kulesco, M. Nero, C. Palazzo, A. Franceschini, G. D'Angelo, T. Marrazzo, M. Rotondaro, S. Mulè, A. Giannarelli, D. Tortora, G. Pasciuto, T. Scambia, G. Fabi, A. Precision Medicine Unit in Senology Fondazione Policlinico Universitario Agostino Gemelli IRCCS Rome Italy Gynecologic Oncology Department of Woman and Child Health and Public HealthWoman Health Area Fondazione Policlinico Universitario A.Gemelli IRCCS Rome Italy Molecular Diagnostic Genomic Fondazione Policlinico Universitario Agostino Gemelli IRCCS Rome Italy Bioinformatics Research Core Facility Fondazione Policlinico Universitario Agostino Gemelli IRCCS Rome Italy Unità di Ginecopatologia e Patologia Mammaria Fondazione Policlinico Universitario Agostino Gemelli IRCCS Rome Italy Department of Woman and Child Health and Public Health Fondazione Policlinico Universitario Agostino Gemelli IRCCS Rome Italy Scienze gastroenterologiche endocrino metaboliche e nefrourologiche Fondazione Policlinico Universitario Agostino Gemelli IRCCS Rome Italy Research Core Facility Data Collection G-STeP Fondazione Policlinico Universitario Agostino Gemelli IRCCS Rome Italy Facility of Epidemiology and Biostatistics Fondazione Policlinico Universitario Agostino Gemelli IRCCS Rome Italy Universita Cattolica del Sacro Cuore Fondazione Policlinico Universitario Agostino Gemelli IRCCS Rome Italy

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2022-LBA-746-ESGO Implementation of a comprehensive cancer genome profiling programme into clinical practice: an italian experience in a referral centre for gynecological cancers

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International Journal of Gynecological Cancer 2022年 32卷 A468-A469页

作者： Camilla Nero Silvia Pelligra Simona Duranti Flavia Giacomini Floriana Camarda Elena Giudice Alessia Piermattei Francesca Sillano Angelo Minucci Maria de Bonis Giuseppina Raspaglio Luciano Giacò Emanuela Lucci Cordisco Marta de Donato Tina Pasciuto Diana Giannarelli Francesco Fanfani Gian Franco Zannoni Anna Fagotti Domenica Lorusso Giovanni Scambia Gynecologic Oncology Fondazione Policlinico Universitario Agostino Gemelli IRCCS Roma Italy Scientific Directorate Fondazione Policlinico Universitario Agostino Gemelli IRCCS Roma Italy Gynecologic Oncology and Breast Pathology Unit Fondazione Policlinico Universitario Agostino Gemelli IRCCS Roma Italy Genomics Core facility Fondazione Policlinico Universitario Agostino Gemelli IRCCS Roma Italy Bioinformatics Core facility Fondazione Policlinico Universitario Agostino Gemelli IRCCS Roma Italy Medical Genetics Unit Fondazione Policlinico Universitario Agostino Gemelli IRCCS Roma Italy Data Collection Core facility- GSTeP Fondazione Policlinico Universitario Agostino Gemelli IRCCS Roma Italy Epidemiology and Biostatistics core facility- GSTeP Fondazione Policlinico Universitario Agostino Gemelli IRCCS Roma Italy

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OC02.06: Validation of 2016 ISUOG proforma on the detection of placenta accreta spectrum

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Ultrasound in Obstetrics & Gynecology 2022年第S1期60卷

作者： L. Gatta S. Ellestad B. Boyd S.L. Collins B. Einerson M.L. Stephenson I. Hammad M.S. Varvoutis A. West Honart J.J. Federspiel A.M. Craig A. Swartz K. Weaver J.R. Salinaro S. Unnithan J. Weber A. Erkanli J.B. Gilner Maternal-Fetal Medicine Duke University Durham NC USA Fetal Medicine Unit John Radcliffe Hospital Oxford United Kingdom Nuffield Department of Women's and Reproductive Health University of Oxford Medical Sciences Division Oxford United Kingdom Maternal-Fetal Medicine University of Utah Health Salt Lake City UT USA Maternal-Fetal Medicine Kaiser Permanente Santa Clara CA USA Maternal-Fetal Medicine West Virginia University Morgantown WV USA Obstetrics and Gynecology Duke University Durham NC USA Biostatistics and Bioinformatics Duke University Durham NC USA

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Insights from ADPedKD, ERKReg and RaDaR registries provide a multi-national perspective on the presentation of childhood autosomal dominant polycystic kidney disease in high- and middle-income countries

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Kidney International 2025年第1期108卷 105-118页

作者： Gimpel, Charlotte Fieuws, Steffen Hofstetter, Jonas Pitcher, David Vanmeerbeek, Lotte Haeberle, Stefanie Dachy, Angélique Massella, Laura Seeman, Tomas Ranchin, Bruno Allard, Lise Bacchetta, Justine Bayrakci, Umut S. Becherucci, Francesca Perez-Beltran, Victor Besouw, Martine Bialkevich, Hanna Boyer, Olivia Canpolat, Nur Chauveau, Dominique Çiçek, Neslihan Conlon, Peter J. Devuyst, Olivier Dossier, Claire Fila, Marc Flögelová, Hana Godron-Dubrasquet, Astrid Gokce, Ibrahim Nguyen-Tang, Elsa Gonzalez González-Rodríguez, Juan David Guffens, Anne Grandaliano, Giuseppe Heidet, Laurence Jankauskiene, Augustina Levart, Tanja Kersnik Knebelmann, Bertrand König, Jens Christian La Scola, Claudio Leone, Valentina Fanny Leroy, Valérie Litwin, Mieczyslaw Lucchetti, Laura Lungu, Adrian C. Marzuillo, Pierluigi Mastrangelo, Antonio Miklaszewska, Monika Montini, Giovanni Nobili, François Obrycki, Lukasz Papizh, Svetlana Paripović, Aleksandra Paripović, Dušan Peruzzi, Licia Raes, Ann Saygili, Seha Spasojević, Brankica Simon, Thomas Szczepańska, Maria Trepiccione, Francesco Varda, Nataša Marčun Westland, Rik Yüksel, Selcuk Zaluska-Lesniewska, Iga Tenebaum, Julie Mustafa, Reem Mallett, Andrew J. Guay-Woodford, Lisa M. Gale, Daniel P. Böckenhauer, Detlef Liebau, Max C. Schaefer, Franz Mekahli, Djalila Asgari, E. Bingham, C. Bramham, K. Fotheringham, J. Gittus, M. Harris, T. Hillman, K. Inston, N. Kerecuk, L. Ong, A.C.M. Sandford, R. Sayer, J.A. Simms, R. Sinha, M. Srivastava, S. Steenkamp, R. Wheeler, D.C. Wilson, P. Winyard, P. Wood, G. Adoberg, A. Afonso, A.C. Andersone, I. Arbeiter, K. Awan, A. Bammens, B. Bouts, A. Buescher, A. Calado, J. Claus, L.R. Debska-Slizien, A. de Fallois, J. Furlano, M. Gabriele, M. Haffner, D. Koster-Kamphuis, L. Lugani, F. Miglinas, M. Oh, J. Pawlak-Bratkowska, M. Roccatello, D. Rusu, E.E. Stefano, M. Santo Scolari, F. Siomou, E. Skoberne, A. Debska-Slizien, A. Szabó, A. Vidal, E. Weitz, M. Chiodini, B. Len Aguilera, J. Cruz Durao, F. Eid, L. Espino-Hernández, M. Geysen, M.S. Giordano, M. Godefroid, N. Division of Pediatric Nephrology Center for Pediatrics and Adolescent Medicine Heidelberg Germany PKD Research Group Laboratory of Ion Channel Research Department of Cellular and Molecular Medicine KU Leuven Leuven Belgium Biostatistics and Statistical Bioinformatics Center KU Leuven Leuven Belgium Department of Renal Medicine University College London London United Kingdom National Registry of Rare Kidney Diseases Bristol United Kingdom Department of Pediatric Nephrology University Hospital Leuven Leuven Belgium Department of Pediatrics ULiège Academic Hospital Liège Belgium Division of Nephrology Bambino Gesù Children's Hospital IRCCS Rome Italy Department of Pediatrics 2nd Medical Faculty Charles University Prague Prague Czech Republic Department of Pediatrics Medical Faculty University of Ostrava Ostrava Czech Republic Pediatric Nephrology Unit Hôpital Femme Mère Enfant Hospices Civils de Lyon INSERM1033 Research Unit Université de Lyon European Rare Kidney Disease Reference Network Center Lyon France Reference Center for Rare Kidney Diseases (SoRare) ERKNet Department of Pediatrics Bordeaux University Hospital Bordeaux France Department of Paediatric Nephrology Ankara City Hospital Üniversiteler Mahallesi Bilkent Caddesi Çankaya/Ankara Turkey Nephrology and Dialysis Unit Meyer Children's Hospital IRCCS Florence Italy Department of Biomedical Experimental and Clinical Sciences University of Florence Florence Italy Paediatric Nephrology Department University Hospital Vall d'Hebron Barcelona Spain Department of Pediatric Nephrology University Medical Center Groningen University of Groningen Groningen Netherlands 1st Department of Childhood Diseases Belarusian State Medical University Minsk Belarus LH Service de Néphrologie Pédiatrique Centre de Référence MARHEA Hôpital Universitaire Necker-Enfants Malades Assistance publique Hôpitaux de Paris (AP-HP) Paris France Laboratoire des Maladies Rénales Héréditaires Inserm UMR 1163 Institut Imag

Data on the presentation of Autosomal Dominant Polycystic Kidney Disease (ADPKD) in children have been based on small/regional cohorts and practices regarding both asymptomatic screening in minors and genetic testing differ greatly between countries. To provide a global perspective, we analyzed over 2100 children and adolescents with ADPKD from 32 countries in six World Health Organization regions: 1060 children from the multi-national ADPedKD registry were compared to 269 pediatric patients from the united Kingdom (RaDaR) and 825 from the European Rare Kidney Disease Registry (ERKReg). Asymptomatic family screening was a common mode of presentation (48% in ADPedKD, 62% in ERKReg) with broad international variability (19%-75%), but fairly stable temporal trends in both registries with no correlation to genetic testing. The national rates of genetic testing varied and correlated significantly with healthcare expenditure (odds ratio 1.030 per 100 united States Dollars/capita/year, in the ERKReg cohort), with little variation over time. Diagnosis due to prenatal abnormalities was more common than anticipated at 14% increasing steadily from 2000 onward in both registries. Realistically, a high proportion of children were diagnosed with ADPKD by active screening, underlining that families affected by ADPKD have a high need for counselling on the complex issues around presymptomatic diagnosis. Regional variations in rate of genetic testing appeared to be driven by economic factors. However, large differences in rate of active screening were not correlated to healthcare spending and probably reflect the influence of different of cultural, legal and ethical frameworks on families and clinicians in different healthcare systems. © 2025 International Society of Nephrology

关键词： adolescents autosomal dominant polycystic kidney disease children demographics genetic testing registry

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